BFM 89.9

HIGHLIGHTS 
Podcast  >  Bigger Picture  >  Health & Living  >  Spinal Muscular Atrophy: From Carrier Screening To Life After Diagnosis

Spinal Muscular Atrophy: From Carrier Screening To Life After Diagnosis

Dr Sangita Dharshini Terumalay, Consultant Paediatric Neurologist | Yap Sook Yee, Parent and SMA Advocate

21-Aug-24 16:00

Spinal Muscular Atrophy: From Carrier Screening To Life After Diagnosis

For a family of a child with spinal muscular atrophy (SMA), life could be divided into moments of Before and After. Before refers to the period when the parents were expecting their child and before he/she came to be diagnosed with this genetic condition. After, of course, heralds how life changed following the diagnosis. In both periods, families have very little knowledge, information and guidance related to SMA, whether in terms of prevention through genetic screening, or navigating the journey of lifelong support and interventions. In conjunction with August being SMA Awareness Month, we speak to Dr Sangita Dharshini Terumalay, Consultant Paediatric Neurologist and Yap Sook Yee, Parent and SMA Advocate, on the realities of screening, diagnosis and preparing for the journey ahead. 


Image credit: ap Sook Yee & Edmund Lim

Produced by: Tee Shiao Eek

Presented by: Tee Shiao Eek


This and more than 60,000 other podcasts in your hand. Download the all new BFM mobile app.

Categories:  wellnessmanaging diseasemedical advances

Tags:  orphan drugthe bigger picturehealth and livingspinal muscular atrophyrare diseasedisabilitygenetic diseasegenetic testing





Play / Pause

Listen now : BFM 89.9 -- The Business Station

Today’s Shows



11:00 AM

Best of Enterprise

(REPEAT) David Lim, Founding Partner at TSF Law, joins Enterprise Explores to unpack the hard legal realities of founder-investor relationships.

12:00 PM

Popcorn Culture

(REPEAT) Bugonia + What’s the craziest movie you’ve ever watched?

1:00 PM

Cruise Control

(REPEAT) Nissan Serena e-POWER is one of the most pleasant MPVs that Daniel has driven. He shares more on the show.

2:00 PM

Matt-Splained

(REPEAT) This week, Matt and Roshan discuss Universal Basic Services and begin a two-part conversation on social resilience, post scarcity abundance, and the techno utopians battling to shape and profit from the future.

3:00 PM

Earth Matters

(REPEAT) As Silicon Island moves ahead, we explore what large-scale reclamation means for Penang’s environment, fisherfolk livelihoods, and the island’s development future with Andrew Han.

4:00 PM

Bar None

(REPEAT) BAM's secretary-general Datuk Kenny Goh joins the show to talk about our shuttlers' preparation ahead of the Thomas Cup, as well as the Tangkis 2030 initiative.

5:00 PM

BBC World Service

Ella Al-Shamahi talks to women in Switzerland and the UK about how job sharing can boost a career and bring many benefits to both work and home life.